Author: Lindsay Randall of Arthur’s Quest, United Kingdom
I was very excited to receive a link from our wonderful Portuguese mother Julia Ferrer, for an Orphan Drug Conference called REPO4EU. I had never heard of it before, but thought this title sounds like exactly what we are trying to do as a European network, and so I put together an abstract utilising information from the 2022 symposium trial presentation, as well as information from Amber and from Aayam Therapeutics. The application was accepted, and the abstract was published on Science Open.
As luck would have it, Sundeep Dugar, of Aayam Therapeutics was also attending this conference, and so this was a perfect opportunity to meet, share ideas and collaborate. I flew to Stockholm, landed, and got the bus to the venue (overshot the bus stop 30 seconds from the venue, and ended up walking back 20 minutes). When I arrived, I realised they were running quite behind schedule, and there was standing room only. It was approximately 2pm, and I was more than a little bit hungry – a bowl of cashews and coffee helped hold off the stomach growls at this point.
Day one was really interesting, but it was very academic. Much talk about studies, ideas, proposals, platforms, and so on, but not so translational. This was a keen topic of conversation between Sundeep and I at dinner that evening. I had the pleasure of meeting Sundeep during the first coffee break, along with Savva Kerdmelidis, of Public Good Pharma. We had many insightful discussions around various moves to getting access to phenylbutyrate, and also, funding options for a new formulation to be trialed.
Day Two was the day all 3 of us presented. The speakers on day two offered a bit more insight and hope into actually getting therapeutics to patients. My turn came, and I realised quite quickly that I have no clue how to use a MAC, as I am an android user. This meant that I was not able to scroll through my notes, so I had to wing it a bit more than I had hoped, and then I had a very short stumble off the stage, before hopping back on like a pro and acting like nothing had happened (possibly whilst turning beetroot). I was able to set up a telephone meeting with another organisation, and Sundeep and I, that had invited me to present and network with potential partners the following month. This meeting had positive outcomes.
My presentation sparked interest from many professionals who approached me afterward to ask questions, and offer advice. In the evening I met Donald Lo of EATRIS/REMEDI4ALL, which was another opportune meeting, and it was a pleasure to discuss glycerol phenylbutyrate and SLC6A1 with Don. I had already booked in a meeting with Beacon/REMEDI4ALL for after the trip, and having Don’s support following my presentation, helped to endorse my cause.
Whilst in Stockholm, I received a copy of a press release from Immedica, stating that the EMA had given Orphan Drug Designation for the use of Glycerol Phenylbutyrate to treat STXBP1. An exciting but small step forward. Concerned that SLC6A1 were not included, I contacted Immedica to understand the reasoning behind this. There are some hopeful possibilities here, but nothing concrete, or in place for SLC6A1 at present.
As I rounded off my trip, I realised that the early flight I had booked to get home for the last day of the children’s half term, meant that I had to leave the hotel at 04.15 AM! I had definitely not calculated this correctly when I booked this flight. I booked a breakfast bag, coffee and taxi, and planned to head early to bed. This did not happen, and I changed my plan to staying up instead, this also did not happen, and by 2am I was asleep. I cancelled both alarms I had set myself, and was finally awoken by reception calling me to tell me the taxi was there – a quick dash downstairs, and it was bon voyage Stockholm, and thankyou to RExPO23. #REPO4EU
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